Canonical Allele Identifier: PA113396
Gene: GNPTAB HGNC NCBI

Linked Data

ClinVar Variation Id: 38413
ClinVar RCV Id: RCV000031967 RCV000820177 RCV001831620
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_077288.2:p.Ser399Phe
CA343061
NM_024312.5:c.1196C>T